A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain enoyl-CoA hydratase (ECHS1) deficiency

Of note , the reported ability of some patients with ECHS1D to tolerate ketogenic diet highlights that it is likely the impaired amino acid catabolism and not the impaired fatty acid oxidation defect that contributes to disease, although the data remain limited. These findings highlight that ECHS1D represents a spectrum disease, with limited genotype-phenotype correlation, contribu ting to variability in outcomes. Nonetheless, families and providers often seek prognostic information in the face of a challenging and rare diagnosis. Therefore, cat egorization by age of onset does seem to be a meaningful way to provide insight on predicted morbidity and mortality.